Variant (rsID / SNP)

rs376385129

rs376385129 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC6A8. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SLC6A8Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Cytoband: Xq28
HGVS: NM_005629.4(SLC6A8):c.1890G>C (p.Val630=)
Allele change: Synonymous_V620V

Associated conditions / phenotypes

Creatine transporter deficiency

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.